C3orf20: Chromosome 3 Open Reading Frame 20
A poorly characterized protein-coding gene with potential roles in cellular processes, implicated in certain cancers and genetic disorders.
Gene Information Card
| Symbol | C3orf20 |
|---|---|
| Full Name | Chromosome 3 Open Reading Frame 20 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 84975 ncbi.nlm.nih.gov/gene/84975 |
| Ensembl ID | ENSG00000144712 |
| UniProt ID | Q5T6F2 |
| OMIM ID | Not available |
| HGNC ID | HGNC:25155 |
| Aliases | FLJ22402, MGC138378 |
Description
C3orf20 is a protein-coding gene located on the long arm of chromosome 3 (3q29). The gene encodes a protein of unknown function, but it is expressed in various tissues and may be involved in cellular signaling or structural roles. Alterations in C3orf20 expression have been observed in certain cancers, and mutations have been reported in a few genetic conditions, though its clinical significance is still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression; potential tumor suppressor or oncogene depending on context | Expression studies in tumor samples |
| Hepatocellular carcinoma | Upregulation in tumor tissues; possible role in proliferation | Gene expression profiling |
| Intellectual disability (candidate) | Copy number variations at 3q29 encompassing C3orf20 | Case reports and CNV studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 8.5 | Low |
| Adrenal gland | 7.2 | Low |
| Brain (cerebellum) | 6.1 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 15.2 | High expression |
| HepG2 (liver cancer) | 10.4 | Moderate expression |
| A549 (lung cancer) | 8.7 | Low expression |
| MCF7 (breast cancer) | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (MAF < 0.01) | Potential loss of start codon, affecting translation |
| c.352C>T (p.Arg118Trp) | Missense | Rare | Unknown functional impact |
| c.500_501del (p.Glu167fs) | Frameshift | Not reported in population databases | Predicted to cause protein truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations likely result in loss of functional protein, potentially contributing to disease phenotypes.
Gain of Function (GOF)
No evidence for gain-of-function mutations currently.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: Not characterized | • Biological process: Not characterized |
| • Cellular component: Not characterized |
Pathways
• No known pathways
Protein Summary
The C3orf20 protein is predicted to be a small, soluble protein with no known functional domains. It may localize to the cytoplasm or nucleus, but experimental validation is lacking. Its expression in multiple tissues suggests a general cellular role, possibly in regulation of gene expression or signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| C3orf20 Knockout HEK293 Cell Line | EDJ-KQ9973 | Human | 84077 | Details Get a Quote |
| C3orf20 Knockout HeLa Cell Line | EDJ-KQ57531 | Human | 84077 | Details Get a Quote |
| C3orf20 Knockout A-549 Cell Line | EDJ-KQ66029 | Human | 84077 | Details Get a Quote |
| C3orf20 Knockout HCT 116 Cell Line | EDJ-KQ74453 | Human | 84077 | Details Get a Quote |
